Abstract
Estrogen plays a role in the pathogenesis of leiomyoma. The CYP17 gene codes for the cytochrome P450c17alpha enzyme, which is involved in the biosynthesis of estrogen. Our aim was to investigate if CYP17 polymorphism could be a useful marker to predict the susceptibility to leiomyoma. Our sample of female subjects was divided into two groups: (1) with leiomyoma (n = 159); (2) without leiomyoma (n = 128). A 169-bp fragment encompassing the A1/A2 polymorphic site of the CYP17 gene was amplified by polymerase chain reaction (PCR), restricted by enzyme MspA1I and electrophored on agarose gel. Genotypes and allelic frequencies for this polymorphism in both groups were compared. There was no significant difference between the two groups regarding the distribution of the CYP17 gene polymorphism frequencies. The A1 homozygote/heterozygote/A2 homozygote proportions for CYP17 in both groups were: (1) 17.0/46.5/36.5%, and (2) 17.2/45.3/37.5%. The proportions for alleles A1 and A2 were also comparable in the two groups. A1 and A2 allele frequencies were: 7% (40.3/59) in group 1, and 2% (39.8/60) in group 2. No significant association was observed between the risk of leiomyoma and polymorphisms of the CYP 17 gene. So, CYP17 gene polymorphism does not appear to be a useful marker for the prediction of leiomyoma susceptibility.
Highlights
Leiomyoma, the most common benign uterine neoplasm, occurs in around one-forth of women during their lifetimes (Cramer et al, 1992). (Leiomyoma) It is an estrogen-dependent disease, a genetic basis having been suggested for its familial tendency (Cohen et al, 1988)
We investigated the relationship between leiomyoma and a number of gene polymorphisms, including urokinase, insulin growth factor, and p53 (Hsieh et al, unpublished data) and observed that the urokinase gene 3’-UTR C/T polymorphism and the p53 codon 72 arginine/proline polymorphism are not useful as markers for the prediction of susceptibility to leiomyoma
Estrogen may exert its mitogenic effects on leiomyoma through estrogen-dependent growth factors (Friedman et al, 1990)
Summary
The most common benign uterine neoplasm, occurs in around one-forth of women during their lifetimes (Cramer et al, 1992). (Leiomyoma) It is an estrogen-dependent disease, a genetic basis having been suggested for its familial tendency (Cohen et al, 1988). (Leiomyoma) It is an estrogen-dependent disease, a genetic basis having been suggested for its familial tendency (Cohen et al, 1988). Leiomyoma is caused by a complex interaction between multiple genes, hormone, growth factor, cytokines, and the environment. It may result from growth and proliferation of a single smooth muscle cell (Townsend et al, 1970). Numerous gene polymorphisms have been reported to play a role in the development of diseases. They are not directly linked to a certain disease, polymorphisms involved in steroid hormone biosynthesis and signaling may be useful genetic biomarkers for hormone-related diseases (Dunning et al, 1999).
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